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Details for CCDC141:c.1131G>T, p.Lys377Asn

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
179770190	178905463

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1131G>T

PROTEIN CHANGE

p.Lys377Asn

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	None	None	None	None	None

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0001855	0.0	4.076e-05	0.001189	9.282e-05	0.0	5.338e-05	0.0	0.0005798

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.801929	Polymorphism

DBSNP ID

1 combination linked to CCDC141:c.1131G>T, p.Lys377Asn

1 disease linked to CCDC141:c.1131G>T, p.Lys377Asn

46,XY disorder of sex development

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